A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543735



Internal ID20916981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24403241..32916237hg38UCSC Ensembl
chr2:24626110..33141304hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg388512997
hg198515195
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3812n223
Supporting Variantsnssv18258120
Samples
Known GenesABHD1, ADCY3, AGBL5, ALK, ASXL2, ATRAID, BIRC6, BRE, BRE-AS1, C2orf16, C2orf53, C2orf70, C2orf71, CAD, CAPN13, CAPN14, CCDC121, CENPA, CENPO, CGREF1, CIB4, CLIP4, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DPY30, DPYSL5, DRC1, DTNB, EFR3B, EHD3, EIF2B4, EMILIN1, EPT1, FAM179A, FLJ31356, FNDC4, FOSL2, FTH1P3, GALNT14, GAREML, GCKR, GPN1, GPR113, GTF3C2, HADHA, HADHB, IFT172, KCNK3, KHK, KIF3C, KRTCAP3, LBH, LCLAT1, LINC00486, LOC100505624, LOC100505716, MAPRE3, MEMO1, MIR1301, MIR4263, MIR4765, MIR558, MPV17, MRPL33, NCOA1, NLRC4, NRBP1, OST4, OTOF, PLB1, POMC, PPM1G, PPP1CB, PREB, PTRHD1, RAB10, RBKS, SLC30A3, SLC30A6, SLC35F6, SLC4A1AP, SLC5A6, SNORD53, SNORD92, SNX17, SPAST, SPDYA, SRD5A2, SUPT7L, TCF23, TMEM214, TRIM54, TRMT61B, TTC27, UCN, WDR43, XDH, YIPF4, YPEL5, ZNF512, ZNF513
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543735
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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